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Genetic mutation analysis for CPE (Cholesteryl Ester Transfer Protein) related variants in whole blood DNA

Published: August 9, 2026Updated: August 16, 2026

This test checks for specific genetic changes in the CPE gene that may be linked to conditions affecting cholesterol metabolism or cardiovascular health.

Quick summary

["Helps identify inherited genetic variations that could influence cholesterol levels or heart disease risk."]

Medically reviewed by WellAlly Editorial TeamLast reviewed August 16, 2026Editorial policy

Key facts at a glance

LOINC
40994-6
Short code
CPEO Syn gene Mut Anl Bld/T
Synonyms
CPEO Syn gene Mut Anl Bld/T
Category
chemistry
Sample
whole-blood
Container
Lavender-top (EDTA)
Units
N/A
Fasting
false
Population
adult
Sex
all
Age range
18–65 years
Method
molgen
Specimen volume
3 mL
Stability
Room temperature: 4h, Refrigerated: 24h
Hemolysis max
0
Lipemia max
0
Icterus max
0
TAT
4–24 hours
Order
routine

What This Test Measures

The test analyzes DNA extracted from your blood sample to detect mutations in the CPE gene. These mutations may affect how your body transfers cholesterol between different types of lipoproteins in the bloodstream.

Why It Might Be Ordered

Your healthcare provider may recommend this test if you have a family history of genetic disorders related to cholesterol metabolism, unexplained high cholesterol levels, or symptoms like recurrent heart issues.

Sample Collection and Processing

A small amount of whole blood will be collected via a simple venipuncture. The blood sample is then processed to isolate DNA for genetic analysis.

Test Limitations and Considerations

This test only identifies the specific mutations listed in your order. It does not screen for all possible genetic variants in the CPE gene or other genes related to cholesterol metabolism.

Clinical interpretation

How abnormal results are interpreted and what conditions they suggest.

Mutations in the CPE gene can influence cholesterol distribution in the blood, potentially increasing the risk of conditions like atherosclerosis or familial hypercholesterolemia. Identifying these mutations can help guide personalized treatment plans, including dietary adjustments or medication.

Short name

CPE Gene Mutation Test

Frequently asked questions

What does this test tell me about my cholesterol levels?
This test specifically looks for genetic mutations in the CPE gene, not current cholesterol levels. It does not provide a direct measurement of your LDL, HDL, or total cholesterol. However, knowing your genetic mutation status may help your healthcare provider assess your risk for conditions related to cholesterol metabolism.
Will this test be covered by insurance?
Coverage depends on your insurance plan, medical necessity, and whether your healthcare provider has documented a clinical indication for this specific genetic test. Always confirm with your insurance provider before the test.
How long will it take to get my results?
Results are typically available within 2 to 4 weeks, depending on laboratory processing times and genetic analysis workflows. Your healthcare provider will contact you once results are ready.
  1. 1
    MedlinePlus — Laboratory TestsSource
  2. 2
    Lab Tests OnlineSource
  3. 3
    Mayo Clinic — Tests & ProceduresSource

Click any link to access the full source. PubMed Central (PMC) links provide free full-text access.

This information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.

Medical Disclaimer

This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.

If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.

Medically reviewed by WellAlly Editorial Team Last reviewed August 16, 2026. · Read our editorial policy